Lowe

BigY3: B12635
MDKA Birth: United States > South Carolina

Tree Position

R-M269 > L23 > L51 > P310 > L151 > S1194 > A8039

Unique Mutations

The mutations unique to this man are summarized in the table below. Those with a '+' or '*' confidence level are considered by FamilyTreeDNA or FullGenomesCorp to be high quality SNPs/INDELs. For completeness, all other mutations of lesser confidence are included as well. These additional mutations may be useful for distinguishing between very closely related men.

Occasionally, some of the mutations listed here will be thought to be shared with other men in which case they might appear in upstream blocks on the tree. When this happens, the 'Blocks' field will indicate what block they appear in. Such a situation might arise with BigY men if the BED data suggests another man may be positive for a SNP, even though it doesn't appear in his VCF data. It might also happen if Chromo2 testing or Sanger sequencing of other men not on the tree show the SNP to be shared.

POS-REF-ALT (hg19) POS-REF-ALT (hg38) Blocks Names Region McDonald BED combBED STRBigY3
B12635
6225611-T-G 6357570-T-G BY160595FT78639 IR3_Dst A+
20570781-T-C 18408895-T-C P5_Dst A+
18479588-G-GA 16367708-G-GA P6_Dst 11×AA*
21226300-C-CT 19064414-C-CT 13×TA*
25970734-T-TTC 23824587-T-TTC P1_Y1 13×TCA*
16013409-G-A 13901529-G-A YA*
4674481-T-TATTC 4806440-T-TATTC A*
16036262-C-CT 13924382-C-CT 11×TA*
56831899-T-TTTCCA A*
13463136-C-A 11307460-C-A A*
20461687-G-T 18299801-G-T P5_Dst A*
13448128-T-A 11292452-T-A A*
56836874-C-T A*
56829687-A-G A*
56834283-C-T A*
3087854-C-A 3219813-C-A A*
13450022-C-A 11294346-C-A A*
20322183-A-AT 18160297-A-AT P5_Dst 15×TA*
18325701-A-AT 16213821-A-AT P6_Prx 27×TA*
13449419-A-G 11293743-A-G A*
13449987-T-TCATTC 11294311-T-TCATTC A*
19608991-A-G 17497111-A-G P5_Prx YA*
19728085-T-C 17616205-T-C P5_Prx A*
19957677-C-T 17845797-C-T P5_Prx A*
20044023-T-C 17932143-T-C P5_Prx A*
24267684-A-T 22121537-A-T P3_b1 A*
24305828-C-T 22159681-C-T P3_t1 A*
24352566-T-TA 22206419-T-TA P3_t1 8×AA*
25530587-G-A 23384440-G-A P1_gr1 A*
26209819-G-A 24063672-G-A P1_Y1 A*
26448840-G-A 24302693-G-A P1_Y1 A*
28816790-A-G 26670643-A-G A*
56834318-C-T A*
14491671-T-C 12379868-T-C BY5692 FGC51812 FGC63585P41 M359 A17722 YY+
9000383-T-C 9162774-T-C BY37294 Y+
10968760-C-T FT438543 +
10893337-C-A +
21049276-G-A 18887390-G-A Y75726 YY+
15424821-C-T 13312941-C-T A14311Y93763 YY+
2694779-T-C 2826738-T-C BY55837 YY+
2980274-G-C 3112233-G-C FT66038 +
3848982-C-T 3980941-C-T FT82636 +
3879694-G-A 4011653-G-A FT66289 +
4776709-A-G 4908668-A-G FT82902 +
4935817-G-A 5067776-G-A FT66581 +
5011202-T-C 5143161-T-C FT82963 +
6039659-T-C 6171618-T-C FT66874 +
6167017-G-T 6298976-G-T BY48349 IR3_Dst +
6839807-A-G 6971766-A-G BY11762 YY+
6908522-T-G 7040481-T-G BY11763 YY+
6992154-T-A 7124113-T-A BY11764 YY+
7173524-C-G 7305483-C-G YY+
7900401-C-T 8032360-C-T BY11765 YY+
8124883-A-G 8256842-A-G YY+
8434888-A-G 8566847-A-G YY+
8453193-TG-T 8585152-TG-T +
8987614-G-A 9150005-G-A FT67440 +
9010388-G-T 9172779-G-T BY77301 Y+
9162814-C-T 9325205-C-T BY11766 +
10850780-C-T FT434081 +
10895470-A-C +
13550689-T-C 11395013-T-C FT445225 +
11645545-A-T FT92515 +
14282437-T-C 12161731-T-C YY+
14329344-T-G 12208638-T-G YY+
14909823-C-T 12797890-C-T BY11767 YY+
15757540-C-T 13645660-C-T BY11768 YY+
16366061-T-A 14254181-T-A YY+
16604771-CT-C 14492891-CT-C 8×T+
16948652-A-G 14836772-A-G YY+
17845595-C-T 15733715-C-T BY11770 YY+
17958266-G-C 15846386-G-C BY11771 YY+
17959152-A-C 15847272-A-C BY11772 YY+
18157845-T-C 16045965-T-C FT83903 Y+
18184130-C-T 16072250-C-T FT68465 Y+
18207345-C-A 16095465-C-A YY+
18667865-C-T 16555985-C-T BY11773 YY+
18855791-A-G 16743911-A-G FT68564 Y+
18901709-C-T 16789829-C-T BY11774 YY+
20804542-C-A 18642656-C-A BY11775 P4_Gap +
20814327-C-T 18652441-C-T BY11776 P4_Gap +
21355207-T-C 19193321-T-C BY11777 YY+
21821202-G-A 19659316-G-A FT68886 Y+
22461960-C-A 20300074-C-A DYZ19 +
22557208-T-C 20395322-T-C YY+
22706704-A-T 20544818-A-T YY+
22879679-C-T 20717793-C-T FT84111 Y+
22966556-G-A 20804670-G-A YY+
23043513-C-A 20881627-C-A YY+
23114566-C-A 20952680-C-A BY11778 YY+
23832619-T-C 21670733-T-C Y+
28581474-T-G 26435327-T-G FT69339 +
28631554-A-G 26485407-A-G FT84207 Y+
14102275-GTCTA-G 11981569-GTCTA-G 11×TCTA*
8703020-T-TAC 8834979-T-TAC 11×AC*
22317154-C-T 20155268-C-T BY3288BY3234 DYZ19 *
23468376-C-CT 21306490-C-CT 11×T*
8589565-A-AAC 8721524-A-AAC 11×AC*
10673855-CTCCAT-C *
10934826-ACCATTCCATT-A *
5332091-A-C 5464050-A-C *
22317152-A-T 20155266-A-T DYZ19 *
22340602-A-G 20178716-A-G DYZ19 *
13453309-C-G 11297633-C-G **
2807024-TTATATATATATATATATATATATATA-T 2938983-TTATATATATATATATATATATATATA-T 20×TA**
20424788-TGAAGGAAG-T 18262902-TGAAGGAAG-T P5_Dst 14×GAAG**
16990254-G-A 14878374-G-A **
19138225-AAT-A 17026345-AAT-A **
13585053-CAA-C 11429377-CAA-C 19×A**
58975100-T-A 56828953-T-A 4×CATTC**
10020531-G-C 10182922-G-C **
22519059-T-C 20357173-T-C Y3681 **
8407743-G-GC 8539702-G-GC 9×C**
26499920-TTG-T 24353773-TTG-T P1_Y1 15×TG**
8288815-TAAAAA-T 8420774-TAAAAA-T 23×A**
56828949-C-T **
13453347-T-G 11297671-T-G **
56828947-T-G **
20045279-AAAGAAAG-A 17933399-AAAGAAAG-A P5_Prx **
14768662-AAT-A 12656731-AAT-A **
21134925-ATTTT-A 18973039-ATTTT-A 22×T**
2745812-T-C 2877771-T-C **
13579531-CA-C 11423855-CA-C 23×A**
5388261-T-TA 5520220-T-TA 18×A**
22566860-G-GA 20404974-G-GA 9×A**
18253790-G-A 16141910-G-A **
15658199-T-TA 13546319-T-TA **
15658205-AT-A 13546325-AT-A **
27763101-AT-A 25616954-AT-A P1_Y2 **
13612925-G-A 11457249-G-A **
27763108-T-TA 25616961-T-TA P1_Y2 **
13612920-T-C 11457244-T-C **
2842382-C-T 2974341-C-T **
3917608-T-C 4049567-T-C FTB20690 **
4286336-A-T 4418295-A-T **
4332000-T-C 4463959-T-C **
4566434-T-C 4698393-T-C FTB67952 **
4571117-T-C 4703076-T-C **
4734827-A-G 4866786-A-G **
6642747-T-C 6774706-T-C **
7114676-C-A 7246635-C-A **
8057100-T-C 8189059-T-C **
9423011-G-A 9585402-G-A **
9540995-C-G 9703386-C-G BY80212 IR3_Prx **
9766110-T-A 9928501-T-A **
9948109-T-G 10110500-T-G **
13317350-T-C 11161674-T-C **
13414002-A-G 11258326-A-G **
13552335-C-T 11396659-C-T **
13576555-G-A 11420879-G-A **
14514582-C-G 12402787-C-G **
16849804-T-G 14737924-T-G BY11769 **
17164807-T-C 15052927-T-C **
21832927-A-G 19671041-A-G FT68893 **
22815542-T-A 20653656-T-A **
26124136-G-A 23977989-G-A P1_Y1 **
27546742-C-CTT 25400595-C-CTT P1_Y2 19×T**
56825378-A-G **
12141-A-C **
17419439-A-AT 15307559-A-AT 25×T***
22318893-T-C 20157007-T-C BY22459 DYZ19 ***
8400900-CTT-C 8532859-CTT-C 14×T***
6642652-C-T 6774611-C-T FGC5757FGC5759 ***
58974758-G-T 56828611-G-T ***
17865408-GA-G 15753528-GA-G 12×A***
5150478-G-T 5282437-G-T ***
22318836-T-C 20156950-T-C BY22457 DYZ19 ***
22318855-G-A 20156969-G-A BY22458 DYZ19 ***
5278078-TTGTG-T 5410037-TTGTG-T 14×TG***
24386876-CTA-C 22240729-CTA-C ***
2695261-T-TAC 2827220-T-TAC 12×AC***
15592550-CAAAA-C 13480670-CAAAA-C 22×A***
9403521-GTTTTT-G 9565912-GTTTTT-G 21×T***
15015255-CTTTTTT-C 12903343-CTTTTTTT-C 24×T***
14852784-CT-C 12740850-CT-C 10×T***
4878246-C-CA 5010205-C-CA 18×A***
16767153-CTTTT-C 14655273-CTTTT-C 17×T***
13890888-CT-C 11770182-CT-C 11×T***
13470036-C-A 11314360-C-A ***
10868031-A-AC ***
14517398-A-AAT 12405599-A-AAT ***
17169919-CA-C 15058039-CA-C 11×A***
4212435-TA-T 4344394-TA-T 9×A***
11013198-T-TATTCC ***
10669506-TTCCATTCC-T,TTCCATGCC ***
15161292-GAAA-G 13049378-GAAA-G 22×A***
15947951-CTTT-C 13836071-CTTT-C 19×T***
2798710-AT-A,ATT 2930669-AT-A,ATT 20×T***
22017997-TA-T 19856111-TA-T 10×A***
8172687-CTTT-C 8304646-CTTT-C 22×T***
17203327-C-CTT 15091447-C-CTT 21×T***
13272774-C-CT 11117098-C-CT 13×T***
3271644-C-CT 3403603-C-CT 11×T***
10989117-A-G ***
6024058-A-AT 6156017-A-AT 14×T***
56828954-C-G ***
14125248-GAA-G 12004542-GAA-G 14×A***
15321327-TG-T 13209445-TG-T ***
13885857-CTT-C,CTTTT 11765151-CTT-C,CTTTT 19×T***
22647281-AT-A 20485395-AT-A 8×T***
20888588-TAA-T,TA 18726702-TAA-T,TA P4_Dst 15×A***
10027023-AT-A 10189414-AT-A 9×T***
5502254-C-CA 5634213-C-CA 16×A***
5923610-C-CA 6055569-C-CA 8×A***
20989082-G-T 18827196-G-T P4_Dst ***
21687985-CAGAGAGAG-C 19526099-CAGAGAGAG-C 19×AG***
15026658-AT-A,ATT 12914746-AT-A,ATT 13×T***
4562018-GA-G 4693977-GA-G 10×A***
13222358-GGAGAGGAAGA-G 11066682-GGAGAGGAAGA-G ***
15002050-A-ATT 12890135-A-ATT 14×T***
28503399-C-CAA 26357252-C-CAA 19×A***
26435391-C-T 24289244-C-T P1_Y1 ***
27461936-T-TTG,TTGTG 25315789-T-TTG,TTGTG P1_Y2 27×TG***
24386890-C-T 22240743-C-T ***
2668989-T-G 2800948-T-G ***
2842118-C-T 2974077-C-T ***
3737489-C-T 3869448-C-T ***
4140892-A-G 4272851-A-G FTB65385 ***
4200055-CAA-C,CAAA 4332014-CAA-C,CAAA 23×A***
4459945-A-G 4591904-A-G ***
4586352-CT-C,CTT 4718311-CT-C,CTT 11×T***
4848472-T-C 4980431-T-C ***
5815594-CA-C,CAAA 5947553-CA-C,CAAA 22×A***
5954958-T-A 6086917-T-A ***
6960851-GA-G 7092810-GA-G 9×A***
7768515-G-C 7900474-G-C ***
8030030-TAAAAAAAAA-T 8161989-TAAAAAAAAA-T 26×A***
8166974-C-T 8298933-C-T ***
13676648-G-GTGGAATGGAATGGAA 11520972-G-GTGGAATGGAATGGAA 11×TGGAA***
14785532-CTTTT-C,CTTT 12673602-CTTTT-C,CTTT 18×T***
16643704-T-C 14531824-T-C ***
18978677-A-AT 16866797-A-AT ***
19267237-T-C 17155357-T-C ***
19459326-T-C 17347446-T-C ***
19554010-T-A 17442130-T-A ***
21276858-T-C 19114972-T-C ***
21523762-CAA-C,CA 19361876-CAA-C,CA 15×A***
21730548-ATT-A,ATTTTT 19568662-ATT-A,ATTTTT 23×T***
22230570-A-G 20068684-A-G DYZ19 ***
22519054-G-A 20357168-G-A ***
24383530-CAA-C,CAAA 22237383-CAA-C,CAAA 15×A***
28558674-C-T 26412527-C-T ***
28589109-A-G 26442962-A-G ***

In the table above, the meaning of the confidence field depends on whether the data comes from an FTDNA kit or an FGC kit. For FTDNA kits, + implies a "PASS" result with just one possible variant, * indicates a "PASS" but with multiple variants, ** indicates "REJECTED" with just a single variant, and *** indicates "REJECTED" with multiple possible variants. 'A*' are heterozygous variants not called by FTDNA, but still pulled from the VCF file. For FGC kits, + indicates over 99% likely genuine (95% for INDELs); * over 95% likely genuine (90% for INDELs); ** about 40% likely genuine; *** about 10% likely genuine. Manual entries read directly from a BAM file will be either + indicating positive, or * indicating that the data show a mixture of possible variants.

For the FTDNA kits, the BED data is encoded in the background color of the cells. Those cells with a white background have coverage, those with a grey background indicate no coverage in the BED file, and those with a pink background indicate the mutation is on the edge of a coverage region. These pink regions often indicate that the individual may be positive for a SNP even if there is no corresponding entry in the vcf file.

The combBED column indicates whether or not the mutation is a SNP and falls in the combBED region defined in Defining a New Rate Constant for Y-Chromosome SNPs based on Full Sequencing Data by Dmitry Adamov, Vladimir Guryanov, Sergey Karzhavin, Vladimir Tagankin, Vadim Urasin.

The McDonald BED column indicates whether or not the mutation is a SNP and falls in the BED region used by Dr. Iain McDonald in the age analysis he does for R-U106 men.